Incidental Mutation 'R5176:Trappc11'
| ID |
399290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
042756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5176 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 47963998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 601
(V601L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
[ENSMUST00000120987]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: V601L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: V601L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Foie-gras_1
|
263 |
522 |
3e-78 |
PFAM |
|
Pfam:Gryzun
|
978 |
1114 |
3.9e-10 |
PFAM |
|
Pfam:Gryzun-like
|
1036 |
1095 |
2.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120987
|
| SMART Domains |
Protein: ENSMUSP00000113779
Gene: ENSMUSG00000038102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gryzun
|
1 |
155 |
4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (69/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
| Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,184,188 (GRCm39) |
D2G |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,931,982 (GRCm39) |
H168Q |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
| Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
| Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
| Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
| Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
| Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
| Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
| Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
| Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
| Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
| Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
| Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
| Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,389 (GRCm39) |
S109P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
| Steap3 |
C |
T |
1: 120,171,497 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
| Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
A |
G |
11: 23,245,977 (GRCm39) |
D1029G |
probably damaging |
Het |
| Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
probably damaging |
Het |
|
| Other mutations in Trappc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Trappc11
|
APN |
8 |
47,956,337 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01300:Trappc11
|
APN |
8 |
47,954,903 (GRCm39) |
missense |
probably benign |
|
|
IGL01312:Trappc11
|
APN |
8 |
47,958,712 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01344:Trappc11
|
APN |
8 |
47,972,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01518:Trappc11
|
APN |
8 |
47,954,904 (GRCm39) |
splice site |
probably null |
|
|
IGL01747:Trappc11
|
APN |
8 |
47,972,656 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01781:Trappc11
|
APN |
8 |
47,967,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01908:Trappc11
|
APN |
8 |
47,957,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01956:Trappc11
|
APN |
8 |
47,981,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02266:Trappc11
|
APN |
8 |
47,958,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Trappc11
|
APN |
8 |
47,983,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,960,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Trappc11
|
APN |
8 |
47,946,448 (GRCm39) |
splice site |
probably benign |
|
|
IGL03030:Trappc11
|
APN |
8 |
47,966,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03393:Trappc11
|
APN |
8 |
47,963,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
bantu
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
bunyoro
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
nyoro
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
serval
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0043:Trappc11
|
UTSW |
8 |
47,958,610 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Trappc11
|
UTSW |
8 |
47,981,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0529:Trappc11
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0538:Trappc11
|
UTSW |
8 |
47,956,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0740:Trappc11
|
UTSW |
8 |
47,977,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1352:Trappc11
|
UTSW |
8 |
47,978,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Trappc11
|
UTSW |
8 |
47,983,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1589:Trappc11
|
UTSW |
8 |
47,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Trappc11
|
UTSW |
8 |
47,982,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2292:Trappc11
|
UTSW |
8 |
47,958,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Trappc11
|
UTSW |
8 |
47,956,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2931:Trappc11
|
UTSW |
8 |
47,956,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Trappc11
|
UTSW |
8 |
47,951,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3714:Trappc11
|
UTSW |
8 |
47,958,351 (GRCm39) |
intron |
probably benign |
|
|
R3739:Trappc11
|
UTSW |
8 |
47,967,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4165:Trappc11
|
UTSW |
8 |
47,978,003 (GRCm39) |
splice site |
probably benign |
|
|
R4581:Trappc11
|
UTSW |
8 |
47,946,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4598:Trappc11
|
UTSW |
8 |
47,966,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4939:Trappc11
|
UTSW |
8 |
47,972,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Trappc11
|
UTSW |
8 |
47,943,930 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4994:Trappc11
|
UTSW |
8 |
47,975,476 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Trappc11
|
UTSW |
8 |
47,965,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5123:Trappc11
|
UTSW |
8 |
47,966,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5279:Trappc11
|
UTSW |
8 |
47,958,339 (GRCm39) |
intron |
probably benign |
|
|
R5293:Trappc11
|
UTSW |
8 |
47,946,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5294:Trappc11
|
UTSW |
8 |
47,983,766 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5661:Trappc11
|
UTSW |
8 |
47,965,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5838:Trappc11
|
UTSW |
8 |
47,965,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5889:Trappc11
|
UTSW |
8 |
47,972,613 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5952:Trappc11
|
UTSW |
8 |
47,949,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5959:Trappc11
|
UTSW |
8 |
47,954,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6239:Trappc11
|
UTSW |
8 |
47,982,529 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6322:Trappc11
|
UTSW |
8 |
47,983,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6369:Trappc11
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
R7541:Trappc11
|
UTSW |
8 |
47,958,617 (GRCm39) |
splice site |
probably null |
|
|
R7544:Trappc11
|
UTSW |
8 |
47,975,449 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7762:Trappc11
|
UTSW |
8 |
47,975,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Trappc11
|
UTSW |
8 |
47,979,979 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8183:Trappc11
|
UTSW |
8 |
47,982,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8282:Trappc11
|
UTSW |
8 |
47,969,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8733:Trappc11
|
UTSW |
8 |
47,954,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Trappc11
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8853:Trappc11
|
UTSW |
8 |
47,982,439 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9544:Trappc11
|
UTSW |
8 |
47,972,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9709:Trappc11
|
UTSW |
8 |
47,946,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTAGCCAACATCAGATAACGAG -3'
(R):5'- GCTGTGTGCTCACTGTAAAGATG -3'
Sequencing Primer
(F):5'- CCAACATCAGATAACGAGTAAGATG -3'
(R):5'- GTGCTCACTGTAAAGATGACTCAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation